Search results for col2a1

101 hits were found for col2a1

# Family MCID Name MIFTS Score
1
OST062 Osteoarthritis with Mild Chondrodysplasia 22 10.750
2
KNS001 Kniest Dysplasia 53 5.306
3
SDC002 Sed Congenita 54 4.692
4
c STC015 Stickler Syndrome, Type I 38 4.653
5
P STC001 Stickler Syndrome 56 4.515
6
CZC002 Czech Dysplasia 34 4.413
7
LGG001 Legg-Calve-Perthes Disease 56 4.398
8
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 49 4.388
9
P OST012 Osteoarthritis 79 4.355
10
SMD002 Smed Strudwick Type 41 4.321
11
SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 19 4.159
12
SPN154 Spondyloperipheral Dysplasia 31 4.117
13
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 30 4.046
14
P MYP006 Myopia 59 3.888
15
RTN017 Retinal Detachment 54 3.597
16
P ACH011 Achondrogenesis 40 3.578
17
P SPN250 Spondyloepimetaphyseal Dysplasia 45 3.558
18
P AVS004 Avascular Necrosis of the Femoral Head 54 3.418
19
SKL014 Skeletal Dysplasia 46 3.337
20
EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 24 3.337
21
STC009 Stickler Sydrome, Type I, Nonsyndromic Ocular 23 3.253
22
P ART022 Arthritis 72 3.213
23
SNS001 Sensorineural Hearing Loss 54 3.213
24
P BRC006 Brachydactyly 55 3.186
25
P MLT007 Multiple Epiphyseal Dysplasia 52 3.186
26
P CLL020 Collagenopathy Type 2 Alpha 1 13 3.115
27
HYP041 Hypochondrogenesis 35 3.095
28
c CL2002 Col2a1-Related Stickler Syndrome 10 2.910
29
CL2001 Col2a1-Associated Stickler Syndrome 6 2.910
30
P RTN025 Retinoschisis 57 2.879
31
P SCL018 Scoliosis 56 2.879
32
DST005 Diastrophic Dysplasia 53 2.879
33
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 45 2.879
34
c FML048 Familial Avascular Necrosis of the Femoral Head 19 2.698
35
SKL017 Skeletal Dysplasias 44 2.643
36
DYS134 Dysspondyloenchondromatosis 19 2.556
37
c TYP019 Type Ii Collagenopathies 12 2.556
38
c CNG021 Congenital Toxoplasmosis 52 2.501
39
OST015 Osteochondrodysplasia 52 2.501
40
c ACH033 Achondrogenesis, Type Ia 44 2.501
41
OST003 Osteonecrosis 43 2.501
42
P BRC003 Brachyolmia 27 2.501
43
CMP005 Campomelic Dysplasia 58 2.468
44
CLF027 Cleft Palate, Isolated 52 2.468
45
P CLL015 Collagen Disease 50 2.468
46
PYL017 Pyle Disease 46 2.468
47
VTR002 Vitreous Syneresis 23 2.468
48
P WGN003 Wagner Syndrome 37 2.087
49
EYD002 Eye Disease 57 2.015
50
BLL001 Baller-Gerold Syndrome 51 2.015
51
MRS002 Marshall Syndrome 50 2.015
52
OST016 Osteochondrosis 49 2.015
53
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 47 2.015
54
MCR037 Macroglossia 45 2.015
55
CRT017 Cartilage Disease 45 2.015
56
P OTS002 Otospondylomegaepiphyseal Dysplasia 44 2.015
57
P SPN061 Spondyloepiphyseal Dysplasia Tarda 42 2.015
58
c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 42 2.015
59
SYN031 Synovial Chondromatosis 42 2.015
60
c HYP559 Hypotrichosis 8 40 2.015
61
SNW001 Snowflake Vitreoretinal Degeneration 39 2.015
62
BND014 Bone Development Disease 39 2.015
63
BNS002 Bone Structure Disease 36 2.015
64
ISC005 Ischemic Bone Disease 35 2.015
65
SCH072 Scheuermann Disease 35 2.015
66
PRP026 Peripheral Retinal Degeneration 34 2.015
67
c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 34 2.015
68
PLM021 Pilomyxoid Astrocytoma 34 2.015
69
P VTR008 Vitreoretinal Degeneration 34 2.015
70
BND004 Bone Deterioration Disease 32 2.015
71
EYD001 Eye Degenerative Disease 32 2.015
72
RTN002 Retinal Perforation 31 2.015
73
P BRT040 Baraitser-Winter Syndrome 31 2.015
74
c OST112 Osteoarthritis-5 29 2.015
75
PCT001 Pectus Carinatum 26 2.015
76
VTR001 Vitreoretinal Dystrophy 26 2.015
77
PRN008 Peroneal Nerve Paralysis 21 2.015
78
c MYP018 Myopia 6 37 1.548
79
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 20 1.515
80
MVD010 Moved to 184840 31 1.476
81
SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 18 1.476
82
P PLC011 Pilocytic Astrocytoma 57 1.425
83
P STR020 Strabismus 52 1.425
84
BNN003 Bone Inflammation Disease 45 1.425
85
RTN023 Retinitis 49 0.137
86
P CHN012 Chondrosarcoma 55 0.087
87
P RHM011 Rheumatoid Arthritis 87 0.061
88
INS024 Insulin-Like Growth Factor I 75 0.061
89
P OST005 Osteogenesis Imperfecta 68 0.061
90
ACH004 Achondroplasia 66 0.061
91
P TXP001 Toxoplasmosis 60 0.061
92
P CTR002 Cataract 57 0.061
93
PSD012 Pseudoachondroplasia 52 0.061
94
c ACH035 Achondrogenesis Ib 43 0.061
95
SPN119 Spondylarthropathy 42 0.061
96
CHR078 Chorioretinitis 37 0.061
97
KSH004 Kashin-Beck Disease 34 0.061
98
c STC013 Stickler Syndrome, Type Ii 33 0.061
99
LYS010 Lysyl Hydroxylase 3 Deficiency 24 0.061
100
c STC007 Stickler Syndrome, Type 3 19 0.061
101
c SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 15 0.061
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